pontocerebellar hypoplasia type 2C

pontocerebellar hypoplasia type 2C

An autosomal recessive pontocerebellar malformation (OMIM:612390) characterised by an abnormally small cerebellum and brainstem, progressive microcephaly, poor sucking or swallowing, extrapyramidal dyskinesia and chorea, epilepsy, and a normal spinal cord.

Molecular pathology
Caused by defects of TSEN34, which encodes a subunit of the tRNA splicing endonuclease complex.